The mutational burden and oligogenic inheritance in Klippel-Feil syndrome

BACKGROUND: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity. METHODS: We consecutively recruited a Chinese cohort of 37 pa...

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Detalles Bibliográficos
Autores principales: Li, Ziquan, Zhao, Sen, Cai, Siyi, Zhang, Yuanqiang, Wang, Lianlei, Niu, Yuchen, Li, Xiaoxin, Hu, Jianhua, Chen, Jingdan, Wang, Shengru, Wang, Huizi, Liu, Gang, Tian, Ye, Wu, Zhihong, Zhang, Terry Jianguo, Wang, Yipeng, Wu, Nan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149842/
https://www.ncbi.nlm.nih.gov/pubmed/32278351
http://dx.doi.org/10.1186/s12891-020-03229-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149842/
https://www.ncbi.nlm.nih.gov/pubmed/32278351
http://dx.doi.org/10.1186/s12891-020-03229-x

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